E57K (p.Glu57Lys) variant of CEBPA (P49715)
E57K (p.Glu57Lys) in CEBPA (P49715) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Acute myeloid leukemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
E57K (p.Glu57Lys) variant details
- p.Glu57Lys
- rs2145263987
- ClinGen CA405275535
- ClinVar RCV002295075
- ClinVar RCV005308762
- Uncertain significance
- Inborn genetic diseases; Acute myeloid leukemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.20
- AlphaMissense 0.09
- MetaLR 0.03
- MetaSVM -1.12
- CADD 27.30
- PolyPhen-2 0.92
- ClinVar: Uncertain significance (Inborn genetic diseases; Acute myeloid leukemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: CEBPA-Associated Familial Acute Myeloid Leukemia (AML). (PMID 20963938)
- Cited in: NCCN Task Force report: Evaluating the clinical utility of tumor markers in oncology. (PMID 22138009)